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Evaluation of 100 Dutch cases with 16p11.2 deletion and duplication syndromes; from clinical manifestations towards personalized treatment options
The 16p11.2 deletion syndrome is a clinically heterogeneous disorder, characterized by developmental delay, intellectual disability, hyperphagia,...
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Possible association of 16p11.2 copy number variation with altered lymphocyte and neutrophil counts
Recurrent copy-number variations (CNVs) at chromosome 16p11.2 are associated with neurodevelopmental diseases, skeletal system abnormalities, anemia,...
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Identifying foetal forebrain interneurons as a target for monogenic autism risk factors and the polygenic 16p11.2 microdeletion
BackgroundAutism spectrum condition or ‘autism’ is associated with numerous genetic risk factors including the polygenic 16p11.2 microdeletion. The...
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Integration of genetic, transcriptomic, and clinical data provides insight into 16p11.2 and 22q11.2 CNV genes
BackgroundDeletions and duplications of the multigenic 16p11.2 and 22q11.2 copy number variant (CNV) regions are associated with brain-related...
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Delayed motor learning in a 16p11.2 deletion mouse model of autism is rescued by locus coeruleus activation
Children with autism spectrum disorder often exhibit delays in achieving motor developmental milestones such as crawling, walking and speech...
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Three case reports of patients indicating the diversity of molecular and clinical features of 16p11.2 microdeletion anomaly
Background16p11.2 microdeletion is a known chromosomal anomaly associated mainly with neurocognitive developmental delay, predisposition to obesity,...
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Vascular contributions to 16p11.2 deletion autism syndrome modeled in mice
While the neuronal underpinnings of autism spectrum disorder (ASD) are being unraveled, vascular contributions to ASD remain elusive. Here, we...
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Who ever heard of 16p11.2 deletion syndrome? Parents’ perspectives on a susceptibility copy number variation syndrome
Chromosomal microarray analysis is an important diagnostic tool to identify copy number variations (CNV). Some of the CNVs affect susceptibility...
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Contribution of genetic variants to congenital heart defects in both singleton and twin fetuses: a Chinese cohort study
BackgroundThe contribution of genetic variants to congenital heart defects (CHDs) has been investigated in many postnatal cohorts but described in...
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Statistical and functional convergence of common and rare genetic influences on autism at chromosome 16p
The canonical paradigm for converting genetic association to mechanism involves iteratively map** individual associations to the proximal genes...
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Quantitative gait assessment in children with 16p11.2 syndrome
BackgroundNeurodevelopmental disorders such as 16p11.2 syndrome are frequently associated with motor impairments including locomotion. The lack of...
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oFlowSeq: a quantitative approach to identify protein coding mutations affecting cell type enrichment using mosaic CRISPR-Cas9 edited cerebral organoids
Cerebral organoids are comprised of diverse cell types found in the develo** human brain, and can be leveraged in the identification of critical...
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CNVs in Patients with Neurodevelopmental Disorders: Meta-Analysis
AbstractThis review is devoted to a comprehensive analysis of DNA copy number variations (CNVs) identified in patients with neurodevelopmental...
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Rare recurrent copy number variations in metabotropic glutamate receptor interacting genes in children with neurodevelopmental disorders
BackgroundNeurodevelopmental disorders (NDDs), such as attention deficit hyperactivity disorder (ADHD) and autism spectrum disorder (ASD), are...
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Prenatal diagnosis of genetic aberrations in fetuses with pulmonary stenosis in southern China: a retrospective analysis
BackgroundThe genetic etiology of congenital pulmonary stenosis (PS) in fetuses remains inadequately studied. We used karyotype analysis and...
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16p13.11p11.2 triplication syndrome: a new recognizable genomic disorder characterized by optical genome map** and whole genome sequencing
Highly identical segmental duplications (SDs) account for over 5% of the human genome and are enriched in the short arm of the chromosome 16. These...
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Using iPSC-Based Models to Understand the Signaling and Cellular Phenotypes in Idiopathic Autism and 16p11.2 Derived Neurons
Autism Spectrum Disorder (ASD) is a neurodevelopmental disorder that is remarkably heterogeneous at the clinical, neurobiological, and genetic...